Publication: Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
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Robberecht, C., Voet, T., Utine, G. E., Schinzel, A., de Leeuw, N., Fryns, J.-P., & Vermeesch, J. (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5, 19. https://doi.org/10.1186/1755-8166-5-19
Abstract
Abstract
Abstract
Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show t
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Creators (Authors)
- Robberecht, Caroline
- Voet, Thierry
- Utine, Gülen E
- Schinzel, Albert
- de Leeuw, Nicole
- Fryns, Jean-Pierre
- Vermeesch, Joris
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Citations
Robberecht, C., Voet, T., Utine, G. E., Schinzel, A., de Leeuw, N., Fryns, J.-P., & Vermeesch, J. (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5, 19. https://doi.org/10.1186/1755-8166-5-19
